Related Experiment Videos
[Mutational analysis of MECP2 gene in Rett syndrome]
Hong Pan1, Yanping Wang, Hongdi Meng
1Department of Pediatrics, First Hospital, Peking University, Beijing, 100034 P.R.China. panmuren@263.net
Objective:
To investigate mutations of MECP2 gene in classical sporadic Rett syndrome (RTT) patients in China.
Methods:
Polymerase chain reaction, single strand conformation polymorphism, cloning and direct sequencing were employed to analyse the three exons of MECP2 gene in 26 RTT patients and their parents, and in 2 sisters of 2 of the RTT patients.
Results:
Nine different mutations in exon 3 were identified in 14 of the 26 patients with RTT, including 3 missense mutations, 3 nonsense mutations, and 3 frame-shift mutations (2 deletion mutations and 1 insert mutation); 2 of these were novel. A missense variant was also identified, which was carried by unaffected father and affected daughter.
Conclusion:
Mutations in MECP2 gene were found over 50% of patients with RTT in China.